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Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay

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dc.contributor.author Nogales-Gadea, Gisela spa
dc.contributor.author Rubio, Juan Carlos spa
dc.contributor.author Fernández-Cadenas, Israel spa
dc.contributor.author García-Consuegra, Inés spa
dc.contributor.author Lucía Mulas, Alejandro spa
dc.contributor.author Cabello Sánchez, Ana Belén spa
dc.contributor.author García-Arumi, Elena spa
dc.contributor.author Arenas, Joaquín spa
dc.contributor.author Andreu, Antoni L. spa
dc.contributor.author Martín, Miguel Ángel spa
dc.date.accessioned 2013-11-27T17:26:37Z
dc.date.available 2013-11-27T17:26:37Z
dc.date.issued 2008 spa
dc.identifier.citation Nogales‐Gadea, G., Rubio, J. C., Fernández-Cadenas, I., García-Consuegra, I., Lucía-Mulas, A., Cabello-Sánchez, A. B., ..., & Martín, M. A. (2008). Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense‐mediated mRNA decay. Human Mutation, 29(2), 277-283. spa
dc.identifier.issn 10981004 spa
dc.identifier.uri http://hdl.handle.net/11268/895
dc.description.abstract Nearly 35% of all mutations identified in the muscle glycogen phosphorylase gene (PYGM) in patients with McArdle disease result in premature termination codons (PTCs), particularly the p.R50X mutation. The latter accounts for more than 50% of the mutated alleles in most Caucasian patient populations. Mutations resulting in PTC could trigger the degradation of mRNA through a mechanism known as nonsense mediated decay (NMD). To investigate if NMD affects the levels of transcripts containing PYGM mutations, 28 Spanish patients with McArdle disease, harboring 17 different mutations with PTCs in 77% of their alleles, were studied. Transcripts levels of PYGM were measured and sequenced. We assessed that 92% of patients showed NMD. The most frequent mutation (p.R50X) elicited decay in all the genotypes tested. Other PTC producing mutations resulting in NMD were: p.L5VfsX22, p.Q73HfsX7, p.E125X, p.N134KfsX161, p.W388SfsX34, p.R491AfsX7, and p.D534VfsX5. Located in the last exon, the mutation p.E797VfsX19 was not affected by NMD. Missense mutations did not appear to be affected by NMD. In the cDNA sequences they appeared as homozygous, despite being heterozygous in the genomic DNA sequences. Exceptions to the rules governing NMD were found in the mutations p.A704 V and p.K754NfsX49. spa
dc.language.iso eng spa
dc.subject.other Codon, Nonsense/*Genetics spa
dc.subject.other Glycogen Phosphorylase, Muscle Form/*Genetics spa
dc.subject.other Glycogen Storage Disease Type V/*Enzymology spa
dc.subject.other Glycogen Storage Disease Type V/*Genetics spa
dc.subject.other Rna Stability/*Genetics spa
dc.subject.other Dna Mutational Analysis spa
dc.subject.other Electrophoresis, Agar Gel spa
dc.subject.other Gene Expression Profiling spa
dc.subject.other Humans spa
dc.subject.other Mutation/Genetics spa
dc.subject.other Transcription, Genetic spa
dc.title Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay spa
dc.type article spa
dc.description.impact 7.033 JCR (2008) Q1, 15/138 Genetics & heredity spa
dc.identifier.doi 10.1002/humu.20649 spa
dc.rights.accessRights openAccess en
dc.subject.unesco Genética humana spa
dc.description.filiation UEM spa
dc.peerreviewed Si spa


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